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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CRLF1 Gene

protein-coding   GIFtS: 59
GCID: GC19M018704

Cytokine Receptor-Like Factor 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cytokine Receptor-Like Factor 11 2     CLF2
Cytokine-Like Factor 12 3     NR62
CLF-12 3     Class I Cytokine Receptor2
CISS2 5     Cytokine Type 1 Receptor CRLP-12
Cold-Induced Sweating Syndrome1     zcytor52
CISS12     ZcytoR53

External Ids:    HGNC: 23641   Entrez Gene: 92442   Ensembl: ENSG000000060167   OMIM: 6042375   UniProtKB: O754623   

Export aliases for CRLF1 gene to outside databases

Previous GC identifers: GC19M019198 GC19M019096 GC19M018549 GC19M018566 GC19M018567 GC19M018568 GC19M018266


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CRLF1 Gene:
This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with
cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The
complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and
cold-induced sweating syndrome. (provided by RefSeq, Oct 2009)

GeneCards Summary for CRLF1 Gene: 
CRLF1 (cytokine receptor-like factor 1) is a protein-coding gene. Diseases associated with CRLF1 include cold-induced sweating syndrome, and crisponi syndrome, and among its related super-pathways are Transcription Receptor-mediated HIF regulation. GO annotations related to this gene include cytokine activity and protein heterodimerization activity. An important paralog of this gene is GHR.

UniProtKB/Swiss-Prot: CRLF1_HUMAN, O75462
Function: Cytokine receptor subunit, possibly playing a regulatory role in the immune system and during fetal
development. May be involved in nervous system development

Gene Wiki entry for CRLF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CRLF1 gene promoter:
         STAT1   Pax-5   STAT1beta   MyoD   USF-1:USF-2   STAT1alpha   c-Ets-1   STAT3   Cart-1   c-Myb   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CRLF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRLF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p12   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p12

CRLF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRLF1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M018704:  view genomic region     (about GC identifiers)

Start:
18,683,030 bp from pter      End:
18,718,551 bp from pter
Size:
35,522 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CRLF1_HUMAN, O75462 (See protein sequence)
Recommended Name: Cytokine receptor-like factor 1 precursor  
Size: 422 amino acids; 46302 Da
Subunit: Forms covalently linked di- and tetramers. Forms a heteromeric complex with cardiotrophin-like cytokine
(CLC); the CRLF1/CLC complex is a ligand for the ciliary neurotrophic factor receptor (CNTFR)
Subcellular location: Secreted
Secondary accessions: Q9UHH5

Explore the universe of human proteins at neXtProt for CRLF1: NX_O75462

Explore proteomics data for CRLF1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75462

  • CRLF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CRLF1 Protein Expression
    REFSEQ proteins: NP_004741.1  
    ENSEMBL proteins: 
     ENSP00000376188   ENSP00000470625  

    Human Recombinant Protein Products for CRLF1: 
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    OriGene Protein Over-expression Lysate for CRLF1
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    Novus Biologicals CRLF1 Proteins
    Novus Biologicals CRLF1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CRLF1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space TAS9686600
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--
    GO:0097058CRLF-CLCF1 complex IDA10966616

    CRLF1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for CRLF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FN3: Fibronectin type III domain containing

    3 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR015152 Growth/epo_recpt_lig-bind

    Graphical View of Domain Structure for InterPro Entry O75462

    ProtoNet protein and cluster: O75462

    UniProtKB/Swiss-Prot: CRLF1_HUMAN, O75462
    Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular
    transport and cell-surface receptor binding
    Similarity: Belongs to the type I cytokine receptor family. Type 3 subfamily
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain


    CRLF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRLF1_HUMAN, O75462
    Function: Cytokine receptor subunit, possibly playing a regulatory role in the immune system and during fetal
    development. May be involved in nervous system development
    Induction: Up-regulated in fibroblast primary cell cultures under stimulation by IFNG/IFN-gamma, TNF and
    IL6/interleukin-6

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS9686600
    GO:0005125contributes to cytokine activity IDA10966616
    GO:0005127contributes to ciliary neurotrophic factor receptor binding IDA10966616
    GO:0005515protein binding IPI10966616
    GO:0019955cytokine binding IPI15034937
         
    CRLF1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for CRLF1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Upregulation of NF-kappaB path 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Crlf1):
     behavior/neurological  hematopoietic system  mortality/aging  nervous system 

    CRLF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Crlf1tm1Wsa for CRLF1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CRLF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CRLF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CRLF1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CRLF1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRLF1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CRLF1:
    hsa-miR-370
    SwitchGear 3'UTR luciferase reporter plasmidCRLF1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRLF1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CRLF1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Translation Insulin regulation of translation
    Development CNTF receptor signaling0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CRLF1
        Development CNTF receptor signaling


    1 GeneGo (Thomson Reuters) Pathway for CRLF1
        Development CNTF receptor signaling



    CRLF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CRLF1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for CRLF1 (O754623 ENSP000003761884) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CNTFRP269923, ENSP000002423384I2D: score=1 STRING: ENSP00000242338
    CLCF1Q9UBD93, ENSP000003093384I2D: score=2 STRING: ENSP00000309338
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001657ureteric bud development IEA--
    GO:0008284positive regulation of cell proliferation IDA10966616
    GO:0042517positive regulation of tyrosine phosphorylation of Stat3 protein IDA10966616
    GO:0043524negative regulation of neuron apoptotic process IDA10966616
    GO:2000672negative regulation of motor neuron apoptotic process IEA--

    CRLF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CRLF1

    Search CenterWatch for drugs/clinical trials and news about CRLF1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CRLF1 gene: 
    NM_004750.4  

    Unigene Cluster for CRLF1:

    Cytokine receptor-like factor 1
    Hs.114948  [show with all ESTs]
    Unigene Representative Sequence: NM_004750
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000594325 ENST00000596360 ENST00000392386(uc010ebt.2) ENST00000597131
    ENST00000593286
    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CRLF1:
    hsa-miR-370
    SwitchGear 3'UTR luciferase reporter plasmidCRLF1 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Sirion Biotech Customized lentivirus for stable overexpression of CRLF1 
                         Customized lentivirus expression plasmids for stable overexpression of CRLF1 
    Primer
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    OriGene qPCR primer pairs and template standards for CRLF1
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    Additional mRNA sequence: 

    AF059293.1 AF073515.1 AF178684.1 AY358291.1 BC044634.1 

    6 DOTS entries:

    DT.40219829  DT.97807406  DT.92418147  DT.100815290  DT.95253402  DT.99993288 

    24/102 AceView cDNA sequences (see all 102):

    BX099709 BM273271 BQ647489 BQ015206 AI185924 CR604171 AY358291 AF059293 
    BQ646417 BQ447978 AI185780 CK819979 BQ009251 BG679248 BQ650413 BQ644443 
    AI161002 BQ010477 BM971057 BQ009146 BC044634 BM928778 AI269388 AI187074 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CRLF1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9
    SP1:                                                                              
    SP2:                                                                              
    SP3:                                                  -                           
    SP4:                                                                              


    ECgene alternative splicing isoforms for CRLF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CRLF1 expression in normal human tissues (normalized intensities)      CRLF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAGGAGTAC
    CRLF1 Expression
    About this image


    CRLF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/22 selected tissues (see all 22) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 14 entries
             Intervertebral Disc Annulus Fibrosus Cells Thoracic Intervertebral Disc
             HyStem+BMP4-induced 4D20.8 cells
             synovial membrane   
     
     Bone (Muscoskeletal System)    fully expand to see all 11 entries
             Zeugopod Epiphyseal End
             HyStem+BMP4-induced 4D20.8 cells
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+BMP4-induced E15 cells
             Adipocyte   
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
             skeleton/axial skeleton   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud Tip Cells Ureteric Bud
             visceral organ/metanephros/renal cortex   

    See CRLF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CRLF1

    SOURCE GeneReport for Unigene cluster: Hs.114948

    UniProtKB/Swiss-Prot: CRLF1_HUMAN, O75462
    Tissue specificity: Highest levels of expression observed in spleen, thymus, lymph node, appendix, bone marrow,
    stomach, placenta, heart, thyroid and ovary. Strongly expressed also in fetal lung

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRLF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CRLF1 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Crlf11 , 5 cytokine receptor-like factor 11, 5 87.89(n)1
    95.25(a)1
      8 (34.15 cM)5
    129311  NM_018827.21  NP_061297.11 
     704931585 
    chicken
    (Gallus gallus)
    Aves LOC1008587301 cytokine receptor-like factor 1-like 79.44(n)
    80.16(a)
      100858730  XM_003642891.1  XP_003642939.1 
    zebrafish
    (Danio rerio)
    Actinopterygii crlf1a1 cytokine receptor-like factor 1a 68.44(n)
    69.5(a)
      436923  NM_001002650.1  NP_001002650.1 


    ENSEMBL Gene Tree for CRLF1 (if available)
    TreeFam Gene Tree for CRLF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CRLF1 gene
    GHR2  PRLR2  
    1 SIMAP similar gene for CRLF1 using alignment to 2 protein entries:     CRLF1_HUMAN (see all proteins):
    PRLR

    CRLF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/340 SNPs in CRLF1 are shown (see all 340)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0178654
    Cold-induced sweating syndrome 1 (CISS1)4--see VAR_0178652 R H mis40--------
    VAR_0331134
    Cold-induced sweating syndrome 1 (CISS1)4--see VAR_0331132 W G mis40--------
    VAR_0178664
    Cold-induced sweating syndrome 1 (CISS1)4--see VAR_0178662 L R mis40--------
    rs1048946681,2
    Cpathogenic118705148(-) CTGGCG/TCAAGA 2 R L mis10--------
    rs1378531451,2
    Cpathogenic118707728(-) GCTACC/G/TGAGTG 2 R * stg10--------
    rs1048946701,2
    Cpathogenic118710530(-) CGGGCA/GCCGCC 2 H R mis10--------
    rs72525351,2
    C,F,A--18703674(+) TGTCAA/GCCTCC 1 -- ds50017Minor allele frequency- G:0.35NA WA CSA EA 365
    rs1449748431,2
    --18703688(+) AGTGGC/TGGGAT 1 -- ds50010--------
    rs72521981,2
    C,F,A--18703773(+) TGGTCT/CCCAAC 1 -- ds500111Minor allele frequency- C:0.34NA WA CSA EA 372
    rs1491168451,2
    --18703865(+) AGGTAC/TTTTGA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for CRLF1 (18683030 - 18718551 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CRLF1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv3785n71CNV Loss21882294
    nsv833776CNV Loss17160897
    nsv911290CNV Loss21882294
    esv24367CNV Loss19812545
    nsv911282CNV Loss21882294
    nsv911288CNV Loss21882294
    dgv3784n71CNV Loss21882294
    nsv911281CNV Loss21882294


    Human Gene Mutation Database (HGMD): CRLF1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604237   
    OMIM disorders: 272430  601378  
    UniProtKB/Swiss-Prot: CRLF1_HUMAN, O75462
  • Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]: An autosomal recessive disorder characterized by
    profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in
    the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected
    infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or
    during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi
    syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly
    of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities
    include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and
    kyphoscoliosis. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/25 diseases for CRLF1 (see all 25):    About MalaCards
    cold-induced sweating syndrome    crisponi syndrome    stomach carcinoma in situ    lumbosacral lipoma
    glossopharyngeal neuralgia    arachnoiditis    trigeminal neuralgia    syringomyelia
    neurilemmoma    transient global amnesia    brachial plexus neuropathy    crlf1-related cold-induced sweating syndrome including crisponi syndrome
    arachnoid cysts    cold-induced sweating syndrome including crisponi syndrome    labyrinthitis    endolymphatic hydrops
    neuroma    lipoma    acoustic neuroma    orofacial cleft

    4 diseases from the University of Copenhagen DISEASES database for CRLF1:
    Trigeminal neuralgia     Labyrinthitis     Glossopharyngeal neuralgia     Stomach carcinoma in situ

    CRLF1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for CRLF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cold-induced sweating syndrome 98.6 11 17436252 (2), 12509788 (2), 20186812 (2), 17436251 (1)
    crisponi syndrome 97.5 8 17436251 (2), 17436252 (2), 20186812 (2)
    leukemia 13.8 2 17436251 (1)

    Genetic Association Database (GAD): CRLF1

    Export disorders for CRLF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CRLF1 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with CRLF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family. (PubMed id 9686600)1, 2, 3, 9 Elson G.C.A.... Gauchat J.-F. (1998)
    2. Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. (PubMed id 17436251)1, 2, 9 Dagoneau N....Cormier-Daire V. (2007)
    3. Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. (PubMed id 12509788)1, 2, 9 Knappskog P.M.... Boman H. (2003)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    7. CLF associates with CLC to form a functional heteromeric ligand for the CNTF receptor complex. (PubMed id 10966616)1, 2 Elson G.C.A.... Gascan H. (2000)
    8. Cytokine receptor-like factor 1 is highly expressed i n damaged human knee osteoarthritic cartilage and involved in osteoarthritis do wnstream of TGF-beta. (PubMed id 19921088)1, 9 Tsuritani K....Yoneda Y. (2010)
    9. Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. (PubMed id 17436252)1, 9 Crisponi L....Rutsch F. (2007)
    10. The global gene-expression profiles of U-937 human mac rophages treated with Tat peptide and Tat-FITC conjugate. (PubMed id 22632162)1 Lin C.W....Jan M.S. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9244 HGNC: 2364 AceView: CRLF1 Ensembl:ENSG00000006016 euGenes: HUgn9244
    ECgene: CRLF1 H-InvDB: CRLF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CRLF1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CRLF1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CRLF1 gene:
    Search GeneIP for patents involving CRLF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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